Krabbe Disease

Krabbe Disease … we wish more than anything you didn’t exist. These past few weeks have been very tough on Kyle and Jenna, but especially on sweet Bryce. It’s become very clear that the disease is progressing, though how much exactly we don’t know.

Once they returned from Pittsburgh in January, Bryce plateaued once they got his medications in place, which is what the team out there predicted would happen. His movement has been limited since then: He really only moves his arms and legs when he’s experiencing a nerve or muscle spasm: It’s like he’s paralyzed from the neck down.

Since about the first week of March, though, he has been a bit more irritable and has started vomiting after many of his meals. They’ve speculated that it could be because they’re feeding him too much or too fast; that it could be about how he’s positioned and how soon they lay him down after he eats, etc. But there isn’t much consistency to when it happens. That’s what makes them think the disease progressing.

With this in mind, they are anxious to move forward with the Nissen Fundoplication procedure, which will prevent reflux and aspiration: Because Bryce can no longer swallow on his own, there is a greater chance of this happening. Also, due to Bryce’s floppy epiglottis, there’s a greater chance of him getting pneumonia as a result of the vomiting: Because his epiglottis doesn’t seal, every time he gets sick, the bacteria builds up on the epiglottis and could cause infection in his lungs. They are meeting with a doctor at the UW-Children’s Hospital on Monday and hope to move forward with the procedure within a week or so.

Bryce’s vision has also been affected, something that Kyle and Jenna began to notice a couple of weeks ago. He is no longer tracking people across the room or focusing. It’s almost as if his vision is delayed – like it takes a while for things to become visible to him. This change is devastating …

They’re not sure if it’s because of the medication or just the disease, but Bryce is sleeping a lot more now. His digestion is also slow, a result of his lack of movement; they are giving him a supplement with two of his feedings to help him have more regular bowel movements.

In spite of all these things, Kyle and Jenna have been experiencing life with Bryce: They spent a week in Mosinee with the Heckendorf family; they spent the weekend here in Minnesota and went to the Sea Life Aquarium at the Mall of America; yesterday, he laid in his first snow pile 🙂 These among many other things …

We ask for your continued prayers for Bryce, Jenna, and Kyle. Your love, strength, and positivity are what is carrying them, and all of us, through this … Thank you!

On behalf of Kyle, Jenna, Bryce, and the Heckendorf and Kuenster families, THANK YOU for coming out yesterday and making The Sky Is Blue Benefit a HUGE success. What an event for sweet Bryce … you all showed such love, support, strength, and generosity. You lifted us up in a way that none of us could have expected: It was overwhelming and amazing.

I have to start with the organizers: Aunt Nikki Nemitz and cousin Trisha Gage drove out to my parents’ home shortly after Bryce’s diagnosis back in November and ran the idea of a benefit passed Jenna and Kyle. They then rallied the troops — Aunt Peg Rewey, Aunt Cindy Ritter, Aunt Angie Redman and so many others — and they were able to create a meaningful, beautiful event yesterday, one that brought hundreds of us together around one little boy and his family. What would we do without your unwavering love, commitment, and support??

To all the sponsors, volunteers, and donors — and there were MANY of you: Thank you for giving so selflessly and thoughtfully, whether it was food, your time, or of one of HUNDREDS of beautiful treasures that raised proceeds to help cover Bryce’s care and raise awareness about this awful disease. You made things run smoothly, and all of us went home with some pretty amazing memories, not to mention items, that will forever be remembered as part of The Sky Is Blue for Bryce …

To Tim Slack and crew: You helped build energy and generosity of spirit in that building last night. Thank you for that, and for making the auction portion of the event run so smoothly. I kept thinking there was no way it wouldn’t be chaotic — but it was darn efficient.

To all of our family, friends, and the community at large: We are blessed to be surrounded by such amazing people. Thank you for coming out yesterday — despite the weather, despite basketball games and wrestling matches, despite all the other things happening in your own lives. You came from near and far to be there for Kyle, Jenna, and Bryce, and they are lucky to have you in their lives …

We don’t know what the weeks and months ahead hold for Bryce, but we are forever grateful to have each other and all of you to lean on in this most challenging and heartbreaking of times. Thank you for just being there.

-Auntie Jamie

“Life is brutal. But it’s also beautiful. Brutiful, I call it. Life’s brutal and beautiful are woven together so tightly that they can’t be separated. Reject the brutal, reject the beauty. So now I embrace both, and I live well and hard and real.” —Glennon Melton, Momastery.com

There are a few common questions that Kyle and Jenna have been asked about Bryce’s condition, and I thought I’d share the answers to those here.

Q: Do Jenna and Kyle also have Krabbe Disease? A: No, Jenna and Kyle are both carriers of the mutated GALC gene that can cause Krabbe Disease when passed on to their children. (Genetics 101: We all have two copies of all of our genes — one from mom and one from dad. When you’re a “carrier,” it means you have one good copy and one bad copy.) For the GALC gene, you only need one good copy to be healthy since it creates enough of the GALC enzyme to maintain myelin in the brain.

It’s estimated that every 1 out of 125 people in the United States carries a mutated GALC gene. The likelihood of meeting someone with this same mutated gene is slim. Obviously, it does happen, as we know all too well.

There are hundreds (and probably thousands) of different mutations to this gene — and all of our genes, really. In order to help further the research about Krabbe, Kyle and Jenna underwent genetic counseling to determine their specific mutations: The version Kyle carries has been documented; the version Jenna carries has not. What this means for Bryce is that they don’t know how the disease will progress since these two versions together have never been seen.

An interesting fact: All of us likely carry five to 10 mutated gene that could cause disease. The breast cancer genes, BRCA1 and BRCA2, are examples that more people are probably familiar with: Mutations of these genes in carriers significantly increase the odds of breast and ovarian cancers.

Q: How did Bryce get Krabbe Disease? A: Krabbe Disease is an inherited disorder that is passed on in the “autosomal recessive manner” — meaning that both parents must have a mutated copy of the gene in order for the disease to present. Any of Kyle and Jenna’s children has a 25 percent chance of having Krabbe; a 50 percent chance of being a carrier; and a 25 percent chance of not being a carrier or having Krabbe.

Yes, there was a 75 percent chance that Bryce wouldn’t get it …

Q: Since the risk is 1/4, what are their plans for future children? A: Kyle and Jenna cannot fathom going through this again, yet they know they want to have more children — they love being parents to sweet Bryce. They are researching their options, and discussing them with the team in Pittsburgh and other families of Krabbe babies. The great news is that many of the families that Jenna and Kyle have connected with have been blessed with healthy children.

Q: What about other family members — are they carriers too? A: One of each of their parents is definitely a carrier of a mutated copy of the Krabbe gene (GALC) — something that’s likely been passed down for generations. Both sets of grandparents are planning to have genetic counseling to determine which sides of the family the mutated gene is from. Once we know those results, extended family members can decide if they want to get tested.

All of Jenna’s and Kyle’s siblings will also be getting tested to see if we’re carriers. If I, for instance, would test positive for the mutation (which would be the same as Jenna’s), then Brady will get tested. If he should also test positive (which is HIGHLY unlikely) we will immediately get our daughters tested. If not, then we’ll wait until they’re older to have them tested (it will be important that they know prior to having children of their own).

Q: How do you manage Bryce’s pain? A: Bryce is currently on three medications, which he gets during his feedings (every four hours or so):

Baclofen: To control muscle spasms and spasticity (tightness)

Gabapentin: To control nerve pain and seizures (they don’t think he’s having the latter yet).

Baby Ibuprofen: To prevent/control inflammation in the brain.

Do you have questions? Feel free to post them here and I’ll do my best to get them answered for you.

In the meantime, just a reminder that “The Sky Is Blue” Benefit for Bryce is this Saturday, March 1, at the Youth and Ag Building in Lancaster, Wis., from 3–8pm (please visit TheBStrongFund.org for more details). We’re looking forward to seeing many of you there, and know that those who can’t be there will be in spirit.

Thank you all for the continued prayers, love, and support. –Auntie Jamie

It’s hard to believe it’s been more than two months since we learned of Bryce’s diagnosis already. Sometimes I wonder how we’ve gotten through that many days — and if I feel that way, I can’t imagine how Jenna and Kyle are doing it. It’s a reminder that life continues to go on regardless …

Since my last update here, Kyle and Jenna have started the process of meeting with doctors to discuss the procedures they’re considering for Bryce. They won’t do anything until March at the earliest, simply because they can’t replace his G-tube button until then (it needs three months to heal properly), and they want to do all the surgeries at once so he doesn’t have to go through all of that and be in and out of the hospital multiple times. Whether they decide to do all of the procedures or not will likely depend on how much the disease progresses between now and then.

The good news is that Bryce’s meds are working, and he’s quite a bit calmer than he was a month ago. They’re actually getting more coos out of him now than then — and a few more smiles, too! It’s SO good for his Mommy and Daddy to see that beautiful smile and his eyes light up in the midst of all of this. They’ve also been able to lay him down for naps more frequently, though they don’t mind holding him as much as they can (per Dr. Escolar, a lot of children with Krabbe go through a phase where they don’t want to be held). And a few more of us are getting to hold him as well.

Last weekend was the #BStrong for Bryce Ice Fishery in Bagley, and despite the frigid temps and wind, so many people showed up and gave their support. Jenna and Kyle asked me to share this message, which they originally posted to Facebook, for all of you who may not be over on that platform:

Kyle and I would like to thank everyone who came out to support Bryce and our family yesterday. We are so grateful for everything everyone is doing to support us! We would especially like to thank Mike and Frankie for organizing the event, as well as everyone who volunteered their time and/or made donations to make it happen. We feel so blessed to have such an amazing support system and we would not make it through each day without all of you! We ask that you continue to keep Bryce in your thoughts and prayers as he continues to fight this fight! Thank you all!

Please remember to mark your calendars for one month from tomorrow, for the Sky Is Blue Benefit for Bryce on March 1. In the meantime, please keep your thoughts, prayers, and positivity coming for our sweet Bryce.

As many of you probably know, a couple of fundraisers are on the books to help cover the expenses of Bryce’s care as he fights Krabbe Disease. The first event is this Saturday, January 25th. Here are all the details about the #BStrong for Bryce Ice Fishery, which is being organized by cousin Mike Mezera:

Registration: Luck of the Irish or River Roadhouse in Bagley or the Stop N Go in BloomingtonEntree Fee: $10.00 per person

Fish Registration and Contest Rules: Fishery begins at dawn and ends at 2pm. Fishermen may fish anywhere in Bagley. Fish registration is at the River of Lakes Boat Launch and contest winners will be determined by fish weight.

Prizes: There will be many door prizes and prizes awarded for the largest Bass, Bluegill, Crappie, Northern, and Perch placing 1st, 2nd, and 3rd. Hot food and Beverages will be sold on the ice at River of Lakes.

A big thank you to Prairie’s Own WPRE radio station and Dan Moris for featuring a story about Bryce and the Fishery this past Monday in their People, Places and Things segment. You can read and/or listen to the story at http://wqpcradio.com/wpre/?p=140.

We hope to see lots of you on the ice at River of Lakes Resort this Saturday!

Also, Bryce’s Great Aunt Krista Hiley just kicked of the #BStrong for Bryce 40-Day Fitness Challenge over on Facebook. We’re asking people to set an achievable fitness goal for March 1st and to work toward that on a daily basis — to #BStrong for yourself and Bryce.

Aunt Krista, for instance, is committing to walking 100 miles by March 1st and donating $2.00 per mile to the #BStrong Fund. I’m committing to doing 5,000 kettlebell swings (125/day at $0.05/swing). We’d love for any and all of you to join us in getting healthy in the name of our favorite little guy.

Gratitude and love to all of you for the strength, love and continued prayers for Kyle, Jenna and Bryce.

Kyle, Jenna, and Bryce have been home from Pittsburgh for a week now — what a relief to have that trip over. They spent it at home in Dodgeville with help from Grandma Sue (through Monday morning) and then Grandma Wendy from Monday late afternoon through Thursday midday. Thank goodness for our amazing mothers is all I can say.

They have been adjusting Bryce’s medications since returning, and he has seemed more content the last few days. They were even able to put him in his infant swing for five minutes two times the other day. He also sat on Papa Tom’s lap on Friday for a few minutes, something he hasn’t done since early December.

While Kyle and Jenna expected test results earlier in the week, they learned on Tuesday that they’d be able to talk with Dr. Escolar on Thursday. I’m going to do my best to recap what Jenna relayed to me about all of Bryce’s tests:

Vision Test: Bryce’s eyesight is still good, and according to the Visual Evoked Potentials test, his brain is correctly interpreting what he’s seeing, which is great news.

Hearing Test: His hearing is still good, though there is a slight delay in how Bryce is processing what he’s hearing. Dr. Escolar recommended that they just speak in shorter sentences to him and more slowly so he can process their words better.

Nerve Conduction Test: When a healthy child does this test, their nerve response is typically 100% — meaning they respond immediately. Bryce’s response is about 40%, which Jenna said she felt was a little generous as he is moving his arms and legs very little on his own at this point. Dr. Escolar explained that part of his lack of movement is due to the muscle relaxant medication that he’s on: The medicine relaxes his muscles to a point where even if he wanted to move, it would take him a lot more effort to overcome the effects of it. Why not reduce the amount of medicine, you might be wondering? Without it, Bryce is in pain. It’s a double-edged sword.

Brain and Lumbar MRI: This test showed that the Krabbe has progressed, meaning that some of the white matter has been effected, and as a result there’s been some slowing of the nerves, but it’s mild at this point.

Dr. Escolar explained that there are four stages to this disease and that Bryce is in stage 2 (there’s often overlap between the stages so how some children progress is different than others):

Krabbe is a disease of the brain and peripheral nervous system, and Dr. Escolar was also able to help Kyle and Jenna (and all of us) better understand why certain things are happening with Bryce’s little body. He is constantly clenching his fists, for instance — to the point where he cries when you try to open his hands. She says this is a sign of a “disease of the brain.” His sensitivity to touch and need to be held are signs of a disease of the peripheral nervous system.

Other things that Dr. Escolar told them:

Most families see the most changes within the first six months of the disease and then it begins to plateau.

Over the next two months, she expects Bryce to become even tighter and weaker (she wants them working with a physical therapist regularly with the goal of keeping his joints loose and to work on range of motion).

The most important message that she shared with Kyle and Jenna (at least from my perspective), is that with proper care and interventions, and if he stays healthy besides the disease, Bryce could live two to three years.